Mak MGI Mouse Gene Detail - MGI:96913 - male germ cell-associated kinase

Symbol

Mak
Name

male germ cell-associated kinase
Synonyms

A930010O05Rik

Feature Type

protein coding gene
IDs

MGI:96913
NCBI Gene: 17152
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr13:41178484-41233182 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 20.25 cM
Mapping Data

2 experiments

SNPs within 2kb

1499 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96913	protein coding gene	Chr13:41178483-41233182 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020483	protein coding gene	Chr13:39507284-39559761 (-)
A/J	MGP_AJ_G0020437	protein coding gene	Chr13:38182644-38237552 (-)
AKR/J	MGP_AKRJ_G0020415	protein coding gene	Chr13:39225825-39278345 (-)
BALB/cJ	MGP_BALBcJ_G0020433	protein coding gene	Chr13:38372142-38421149 (-)
C3H/HeJ	MGP_C3HHeJ_G0020232	protein coding gene	Chr13:39108488-39160501 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020866	protein coding gene	Chr13:40760470-40816277 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018453	protein coding gene	Chr13:36322923-36369641 (-)
CAST/EiJ	MGP_CASTEiJ_G0019747	protein coding gene	Chr13:38880191-38932779 (-)
CBA/J	MGP_CBAJ_G0020193	protein coding gene	Chr13:42511045-42563878 (-)
DBA/2J	MGP_DBA2J_G0020315	protein coding gene	Chr13:37762273-37811526 (-)
FVB/NJ	MGP_FVBNJ_G0020294	protein coding gene	Chr13:37257587-37306762 (-)
LP/J	MGP_LPJ_G0020390	protein coding gene	Chr13:39747908-39799760 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020323	protein coding gene	Chr13:42479967-42528996 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020909	protein coding gene	Chr13:38876413-38928916 (-)
PWK/PhJ	MGP_PWKPhJ_G0019502	protein coding gene	Chr13:37824418-37885652 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019332	protein coding gene	Chr13:37483252-37535280 (-)
WSB/EiJ	MGP_WSBEiJ_G0019809	protein coding gene	Chr13:39176607-39226394 (-)

Human Ortholog

MAK, male germ cell associated kinase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MAK, male germ cell associated kinase
Synonyms

RP62
Links

HGNC:6816

NCBI Gene ID: 4117

neXtProt AC: NX_P20794

UniProt: P20794
Chr Location

6p24.2; chr6:10762723-10838553 (-) GRCh38

MGI Vertebrate Homology

Mak stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MAK
Gene Tree

Mak

Diseases

1 with human MAK associations

				Human Disease	Mouse Models
				retinitis pigmentosa 62 IDs retinitis pigmentosa 62 DOID:0110380 ICD10CM:H35.5 OMIM:614181

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 2 genetic backgrounds
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

1
Genomic Mutations

1 involving Mak
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available

Males homozygous for a targeted null mutation exhibit slight reductions in litter size and sperm motility in vitro.

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All GO Annotations

44
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

737
Tissues

22
cDNA Data

30
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mak

ZFIN mak

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All Sequences

70
RefSeq

24
UniProt

4
CCDS

CCDS26471.1, CCDS49244.1, CCDS49245.1

Ensembl

ENSMUSG00000021363 (Evidence)
NCBI Gene

17152

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021363	Ensembl Gene Model \| MGI Sequence Detail	54699	C57BL/6J	± kb
transcript	ENSMUST00000225084	Ensembl \| MGI Sequence Detail	3573	Not Applicable
polypeptide	ENSMUSP00000152946	Ensembl \| MGI Sequence Detail	646	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000010089 serine/threonine-protein kinase MAK

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR050117 Mitogen-activated protein kinase

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

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All nucleic 35

Genomic 1

cDNA 31

Other 3

Microarray probesets 4

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MGD-MRK-12106, MGI:2444483

Summaries

All 39

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 7
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:347611 Varner LR, et al., The deubiquitinase Otud7b suppresses cone photoreceptor degeneration in mouse models of retinal degenerative diseases. iScience. 2024 Apr 19;27(4):109380

TSS for Mak:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr122178	Chr13:41233104-41233138 (-)	61 bp
Tssr122177	Chr13:41233076-41233098 (-)	95 bp
Tssr122176	Chr13:41233022-41233033 (-)	154 bp
Tssr122175	Chr13:41231514-41231550 (-)	1,650 bp
Tssr122174	Chr13:41189518-41189540 (-)	43,653 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24